更新于：2024-09-19

Lynch Syndrome II

Lynch综合征Ⅱ型

更新于：2024-09-19

基本信息

别名

COCA2、COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2、COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2

+ [25]

简介

Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME.

关联

项与 Lynch综合征Ⅱ型相关的临床试验

NCT05704010 / RecruitingN/A

Role of Videocapsule Endoscopy in Lynch Syndrome: a Multicenter Italian Registry Study

Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2. These pathogenic variants confer a higher risk of developing colorectal and other cancers, including small bowel cancer. The risk of developing a small bowel adenocarcinoma is about 100 times higher compared to individuals without Lynch syndrome, and the lifetime risk of small bowel cancer is estimated at 4,2%.
The diagnosis of a small bowel cancer depends on videocapsule endoscopy (VCE). This device is swalled so that it can record images of the small bowel, which are then stored on a wearable device for about 8 hours. The capsule is then expelled in the feces while the images are transferred to a computer to be analysed. To date, there is conflicting evidence on the efficacy of small bowel cancer screening with VCE
Rationale: this registry study will collect prospective data from patients with LS undergoing VCE
Aim: evaluate the incidence of neoplastic and pre-neoplastic lesions in patients with LS during a VCE-based small bowel cancer screening study
Design: this is a multicentric, observational study that analyzes data from diagnostic techniques already approved. Patients will not undergo diagnostic procedures beyond what would be recommended by clinical practice.

开始日期2018-11-01

申办/合作机构

San Raffaele SpA

100 项与 Lynch综合征Ⅱ型相关的临床结果

登录后查看更多信息

100 项与 Lynch综合征Ⅱ型相关的转化医学

登录后查看更多信息

0 项与 Lynch综合征Ⅱ型相关的专利（医药）

登录后查看更多信息

501

项与 Lynch综合征Ⅱ型相关的文献（医药）

2024-03-01·The American Journal of dermatopathology

Expanding the Spectrum of Skin Neoplasms in Muir-Torre Syndrome: Beyond Sebaceous Tumours.

Article

作者: Pablo Díaz-Calvillo ; Carmen Gómez-Jiménez ; Doriane Sabushimike ; Rogelio González-Sarmiento ; Mónica Roncero-Riesco ; Ángel Santos-Briz

2024-01-03·The American Journal of dermatopathology

Mosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle.

Article

作者: Amber O'Brien ; Sarah Macfarlane ; Matthew Sommerlad ; Schaida Schirwani

ABSTRACT:

Lynch syndrome is an inherited condition, which increases the risk of numerous visceral malignancies and cutaneous tumors such as keratoacanthomas and sebaceous tumors. It is typically identified by immunohistochemistry of tissue taken from tumors or through genetic testing with next-generation sequencing. Diagnosing Lynch syndrome becomes more complex when the individual is mosaic for the relevant pathogenic variant. There are very few cases of this reported in the medical literature. It is even more unusual for the diagnosis to be made based on testing of a keratoacanthoma lesion. We report a case where immunohistochemistry of a keratoacanthoma helped make a diagnosis of mosaic Lynch syndrome. We will explore how mosaicism should be considered when a phenotype is strong, even if next-generation sequencing reports no pathogenic or likely pathogenic variant and how lesions such as keratoacanthomas can have a role in the early detection and treatment of future malignancies.

2023-11-14·Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]

Clinical Outcomes in Sebaceous Carcinoma: A Retrospective Two-Center Cohort Study.

Article

作者: Nour Kibbi ; Ursa B Petric ; Ghida El-Banna ; Derek M Beaulieu ; Neil Rajan ; Divya Srivastava ; Sumaira Z Aasi

BACKGROUND:

Sebaceous carcinoma (SC) is a rare, potentially recurrent, and life-threatening cutaneous malignancy that can be associated with Muir-Torre syndrome (MTS), a DNA mismatch repair-driven genodermatosis. Earlier studies examining factors associated with recurrence have focused on periocular tumors only.

OBJECTIVE:

Examine outcomes of SC and identify factors associated with recurrence.

MATERIALS AND METHODS:

Retrospective study from 2 tertiary care centers.

RESULTS:

Sixty-seven cases from 63 patients were identified, including 7 cases of MTS and 13 arising in the context of immunosuppression. Fifty-five cases (82.1%) were treated with complete circumferential peripheral and deep margin assessment (CCPDMA) methods. Five recurrences developed during the postoperative period. On univariate analysis, periocular location (odds ratio [OR] 7.6, p = .0410), and lesion size ≥2 cm (OR 9.6, p = .005) were associated with recurrence, whereas CCPDMA (OR 0.052, p = .0006) was inversely associated with recurrence. On multivariate analysis, only lesion size ≥2 cm (OR 9.6, p = .0233) and CCPDMA approaches (OR 0.052, p = .007) were significant.

CONCLUSION:

Non-complete circumferential peripheral and deep margin assessment methods and large lesion size were independent risk factors predicting recurrence, whereas anatomic subtype and MTS status were not. These findings can assist in identifying SC cases that may benefit from more aggressive treatment and closer surveillance.